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Childhood hearing loss

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https://www.readbyqxmd.com/read/29130651/further-delineation-of-the-gdf6-related-multiple-synostoses-syndrome
#1
Paulien A Terhal, Nienke E Verbeek, Nine Knoers, Rutger J A J Nievelstein, Ans van den Ouweland, Ralph J Sakkers, Lucienne Speleman, Gijs van Haaften
A mutation in GDF6 was recently found to underlie a multiple synostoses syndrome. In this report, we describe the second family with GDF6-related multiple synostoses syndrome (SYNS4), caused by a novel c.1287C>A/p.Ser429Arg mutation in GDF6. In addition to synostoses of carpal and/or tarsal bones, at least 6 of 10 affected patients in this family have been diagnosed with mild to moderate hearing loss. In four of them otosclerosis was said to be present, one patient had hearing loss due to severe stapes fixation at the age of 6 years, providing evidence that hearing loss in the GDF6-related multiple synostoses syndrome can be present in childhood...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29117949/trends-in-hearing-loss-among-adolescents
#2
Tyson S Barrett, Karl R White
OBJECTIVES: Our aim with this article is to evaluate whether the prevalence of hearing loss is increasing among adolescents living in the United States. METHODS: All available data about hearing loss among adolescents from the large, federally funded National Health and Nutrition Examination Survey (NHANES) were analyzed. By using the 4 data releases between 1994 and 2010 (a total of 6891 adolescents), the prevalence of adolescent hearing loss >15 and ≥25 dB at low frequencies (0...
November 8, 2017: Pediatrics
https://www.readbyqxmd.com/read/29114160/clinical-characteristics-of-troublesome-pediatric-tinnitus
#3
Annett Szibor, Topi Jutila, Antti Mäkitie, Antti Aarnisalo
Objectives: The frequency of tinnitus in children and adults is practically the same. However, although adults reveal their symptoms and seek for medical aid, the suffering often remains unrecognized in the young. This is due to both the inability of children to properly describe their symptoms and the lack of recognition. Materials and methods: Among 5768 patients entering our department with complaints of tinnitus between 2010 and 2015, there were only 112 children...
2017: Clinical Medicine Insights. Ear, Nose and Throat
https://www.readbyqxmd.com/read/29105081/long-term-sequelae-in-survivors-of-childhood-leukemia-with-down-syndrome-a-childhood-cancer-survivor-study-report
#4
Robert E Goldsby, Kayla L Stratton, Shannon Raber, Arthur Ablin, Louise C Strong, Kevin Oeffinger, Charles A Sklar, Gregory T Armstrong, Leslie L Robison, Smita Bhatia, Wendy M Leisenring
BACKGROUND: Children with Down syndrome (DS) are at increased risk of developing acute leukemia and are more prone to acute toxicities. We studied the incidence and severity of chronic health conditions among survivors of childhood leukemia with DS compared with those without DS. METHODS: Chronic health conditions reported by questionnaire were compared between 154 pediatric leukemia survivors with DS and 581 without DS, matched by leukemia, age at diagnosis, race/ethnicity, sex, radiation location and chemotherapy exposure using Cox models to estimate hazard ratios (HRs) and 95% confidence intervals (CIs)...
November 3, 2017: Cancer
https://www.readbyqxmd.com/read/29098097/early-renal-involvement-in-a-girl-with-classic-fabry-disease
#5
Fernando Perretta, Norberto Antongiovanni, Sebastián Jaurretche
Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). This would explain why women (heterozygotes) present a wide variability in the severity of their phenotype. The manifestations are multisystemic and begin in early childhood, reaching a severe compromise in adulthood...
2017: Case Reports in Nephrology
https://www.readbyqxmd.com/read/29090527/novel-pregnancy-triggered-episodes-of-capos-syndrome
#6
Irene J Chang, Margaret P Adam, Suman Jayadev, Thomas D Bird, Niranjana Natarajan, Ian A Glass
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome (OMIM# 601338) is a rare autosomal dominant disorder characterized by episodic, fever-induced ataxic encephalopathy in childhood with residual symptoms. All identified patients have the same heterozygous missense variant c.2452G>A (p.Glu818Lys) in the ATP1A3 gene, encoding Na(+) /K(+) ATPase α3. We describe a large CAPOS pedigree with three generations of affected members, the first ascertained in the United States...
November 1, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29080812/juvenile-paget-disease
#7
Stergios A Polyzos, Tim Cundy, Christos S Mantzoros
Juvenile Paget disease (JPD) is a rare disorder, mainly caused by mutations in the gene TNFRSF11B that encodes osteoprotegerin (OPG). Loss of OPG action causes generalized, extremely rapid bone turnover. The clinical manifestations are both skeletal - progressive skeletal deformity that develops in childhood - and extra-skeletal, including hearing loss, retinopathy, vascular calcification and internal carotid artery aneurysm formation. The severity of the phenotype seems to be related to the severity of TNFRSF11B gene deactivation...
October 25, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29066580/intelligence-and-academic-achievement-with-asymptomatic-congenital-cytomegalovirus-infection
#8
Adriana S Lopez, Tatiana M Lanzieri, Angelika H Claussen, Sherry S Vinson, Marie R Turcich, Isabella R Iovino, Robert G Voigt, A Chantal Caviness, Jerry A Miller, W Daniel Williamson, Craig M Hales, Stephanie R Bialek, Gail Demmler-Harrison
OBJECTIVES: To examine intelligence, language, and academic achievement through 18 years of age among children with congenital cytomegalovirus infection identified through hospital-based newborn screening who were asymptomatic at birth compared with uninfected infants. METHODS: We used growth curve modeling to analyze trends in IQ (full-scale, verbal, and nonverbal intelligence), receptive and expressive vocabulary, and academic achievement in math and reading. Separate models were fit for each outcome, modeling the change in overall scores with increasing age for patients with normal hearing (n = 78) or with sensorineural hearing loss (SNHL) diagnosed by 2 years of age (n = 11) and controls (n = 40)...
November 2017: Pediatrics
https://www.readbyqxmd.com/read/29055896/sifd-as-a-novel-cause-of-severe-fetal-hydrops-and-neonatal-anaemia-with-iron-loading-and-marked-extramedullary-haemopoiesis
#9
Chris Barton, Sabiha Kausar, Deborah Kerr, Stefania Bitetti, Rob Wynn
SIFD describes a heritable, syndromic condition characterised principally by sideroblastic anaemia (SA) with immunodeficiency, fevers and developmental delay, arising in mutations within the TRNT1 gene. Other clinical manifestations of SIFD include cardiomyopathy, seizures, sensorineural hearing loss, renal dysfunction, metabolic abnormalities, hepatosplenomegaly and retinitis pigmentosa.Presentation of SIFD is variable but typically in early childhood with SA or with fever. In this report, we extend the described SIFD phenotype...
October 21, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29051883/early-motor-delay-an-outstanding-initial-sign-of-osteogenesis-imperfecta-type-1
#10
Vito Pavone, Teresa Mattina, Piero Pavone, Raffaele Falsaperla, Gianluca Testa
INTRODUCTION: Osteogenesis imperfect (OI) is a heterogeneous and complex connective tissue disorder that manifests with low bone density and fragility. More than 15 types of OI have been distinguished on a clinical and molecular basis, but the classical clinical classification previously proposed in Types 1-4 with the recent inclusion of Type 5 appears to be more suitable. The diagnosis is mainly made on clinical and radiographic findings with fractures caused by mild trauma, bowing deformities of long bones, and growth deficiency...
May 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/29049002/cost-effectiveness-of-the-haemophilus-influenzae-type-b-vaccine-for-infants-in-mainland-china
#11
Guijun Ning, Zundong Yin, Yixing Li, Huaqing Wang, Weizhong Yang
OBJECTIVE: The aims of this study were to estimate the cost-effectiveness of the Haemophilus influenzae type b (Hib) vaccine for the prevention of childhood pneumonia, meningitis and other vaccine-preventable diseases in mainland China from a societal perspective and to provide information about the addition of the Hib vaccine to Chinese immunization programs. METHODS: A decision tree and the Markov model were used to estimate the costs and effectiveness of the Hib vaccine versus no Hib vaccine for a birth cohort of 100,000 children in 2016...
October 19, 2017: Human Vaccines & Immunotherapeutics
https://www.readbyqxmd.com/read/29016809/longitudinal-assessment-of-late-onset-neurologic-conditions-in-survivors-of-childhood-central-nervous-system-tumors-a-childhood-cancer-survivor-study-report
#12
Elizabeth M Wells, Nicole J Ullrich, Kristy Seidel, Wendy Leisenring, Charles A Sklar, Gregory T Armstrong, Lisa Diller, Allison King, Kevin R Krull, Joseph P Neglia, Marilyn Stovall, Kimberly Whelan, Kevin C Oeffinger, Leslie L Robison, Roger J Packer
Background: Survivors of childhood central nervous system (CNS) tumors experience high rates of treatment-related neurologic sequelae. Whether survivors continue to be at increased risk for new events as they age is unknown. Methods: Adverse neurologic health conditions in 5-year survivors of CNS tumors from the Childhood Cancer Survivor Study (CCSS, n=1876) were evaluated longitudinally at a median 23.0 years from diagnosis, range 5.1 - 38.9; median age at last evaluation 30...
August 22, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28994037/pathophysiology-diagnosis-and-treatment-of-inherited-distal-renal-tubular-acidosis
#13
REVIEW
Nilufar Mohebbi, Carsten A Wagner
Distal renal tubular acidosis (dRTA) is a tubular disorder with a primary defect of urinary acidification and acid excretion in the collecting duct system. Consequently, patients develop hyperchloremic metabolic acidosis with an inappropriately alkaline urine. Inherited forms of dRTA are due to mutations in at least three distinct genes: SLC4A1, ATP6V1B1, ATP6V0A4. Mutations in SLC4A1-(AE1) are inherited either in an autosomal dominant manner or in a recessive one. ATP6V1B and ATP6V0A4 mutations affect two different subunits of the vacuolar H(+)-ATPase proton-pump, the B1 and a4 subunits, and are inherited in an autosomal recessive manner...
October 9, 2017: Journal of Nephrology
https://www.readbyqxmd.com/read/28990963/terrible-twos-or-early-signs-of-psychopathology-developmental-patterns-in-early-identified-preschoolers-with-cochlear-implants-compared-with-hearing-controls
#14
Anouk P Netten, Carolien Rieffe, Lizet Ketelaar, Wim Soede, Kenneth D Gadow, Johan H M Frijns
OBJECTIVE: Cochlear implants (CIs) have dramatically improved the lives of children who are deaf or hard of hearing; however, little is known about its implications for preventing the development of psychiatric symptoms in this at-risk population. This is the first longitudinal study to examine the early manifestation of emotional and behavioral disorders and associated risk and protective factors in early identified preschoolers with CIs compared with hearing peers. DESIGN: Participants were 74 children with CIs and 190 hearing controls between ages 1 and 5 years (mean age, 3...
October 4, 2017: Ear and Hearing
https://www.readbyqxmd.com/read/28971234/a-novel-dominant-col11a1-mutation-in-a-child-with-stickler-syndrome-type-ii-is-associated-with-recurrent-fractures
#15
M G Vogiatzi, D Li, L Tian, J P Garifallou, C E Kim, H Hakonarson, M A Levine
This case describes a child with blindness, recurrent low-impact fractures, low bone mass, and intermittent joint pain who was found to have a novel missense mutation in COL11A1, consistent with Stickler syndrome type II. The case illustrates the phenotypic variability of the syndrome, which may include increased fragility in childhood. INTRODUCTION: Stickler syndrome type II is an autosomal dominant disorder caused by mutations in the gene that encodes the type XI collagen chain α1 (COL11A1)...
October 3, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28967629/mutations-in-aifm1-cause-an-x-linked-childhood-cerebellar-ataxia-partially-responsive-to-riboflavin
#16
G Heimer, E Eyal, X Zhu, E K Ruzzo, D Marek-Yagel, Doron Sagiv, Y Anikster, H Reznik-Wolf, E Pras, D Oz Levi, D Lancet, B Ben-Zeev, A Nissenkorn
BACKGROUND: AIFM1 encodes a mitochondrial flavoprotein with a dual role (NADH oxidoreductase and regulator of apoptosis), which uses riboflavin as a cofactor. Mutations in the X-linked AIFM1 were reported in relation to two main phenotypes: a severe infantile mitochondrial encephalomyopathy and an early-onset axonal sensorimotor neuropathy with hearing loss. In this paper we report two unrelated males harboring AIFM1 mutations (one of which is novel) who display distinct phenotypes including progressive ataxia which partially improved with riboflavin treatment...
September 15, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28965846/fdxr-mutations-cause-sensorial-neuropathies-and-expand-the-spectrum-of-mitochondrial-fe-s-synthesis-diseases
#17
Antoine Paul, Anthony Drecourt, Floriane Petit, Delphine Dupin Deguine, Christelle Vasnier, Myriam Oufadem, Cécile Masson, Crystel Bonnet, Saber Masmoudi, Isabelle Mosnier, Laurence Mahieu, Didier Bouccara, Josseline Kaplan, Georges Challe, Christelle Domange, Fanny Mochel, Olivier Sterkers, Sylvie Gerber, Patrick Nitschke, Christine Bole-Feysot, Laurence Jonard, Souad Gherbi, Oriane Mercati, Ines Ben Aissa, Stanislas Lyonnet, Agnès Rötig, Agnès Delahodde, Sandrine Marlin
Hearing loss and visual impairment in childhood have mostly genetic origins, some of them being related to sensorial neuronal defects. Here, we report on eight subjects from four independent families affected by auditory neuropathy and optic atrophy. Whole-exome sequencing revealed biallelic mutations in FDXR in affected subjects of each family. FDXR encodes the mitochondrial ferredoxin reductase, the sole human ferredoxin reductase implicated in the biosynthesis of iron-sulfur clusters (ISCs) and in heme formation...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28964293/emotional-and-behaviour-difficulties-in-teenagers-with-permanent-childhood-hearing-loss
#18
Jim Stevenson, Hannah Pimperton, Jana Kreppner, Sarah Worsfold, Emmanouela Terlektsi, Colin Kennedy
OBJECTIVES: It is known that during the middle childhood years those with permanent childhood hearing loss (PCHL) are at increased risk of showing emotional and behaviour difficulties (EBD). It has yet to be established whether this risk continues into the late teenage years. There is a paucity of longitudinal studies on the association between PCHL and EBD. METHODS: The Strengths and Difficulties Questionnaire (SDQ) was used to measure EBD based on parent, teacher and self-ratings in 76 teenagers with PCHL and 38 in a hearing comparison group (HCG) from a population sample of children that was followed up from birth to adolescence...
October 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28952901/long-term-hearing-outcomes-after-recurrent-acute-otitis-media-during-early-childhood
#19
Mattias Krakau, Britta Rynnel Dagöö, Sten Hellström, Anna Granath
OBJECTIVE: To survey long-term hearing outcomes and middle ear pathology in a 30-year follow-up in individuals with onset of recurrent acute otitis media (rAOM) before three years of age. METHODS: 28 adults, aged 30.1-31.8 years, who originally - at the age of 12-32 months - participated in a study on rAOM between 1979 and 1983, were re-examined regarding self-reported ear problems, current tympanic membrane changes and audiology. Thirteen subjects had suffered from rAOM during early childhood and 15 subjects served as a control group...
December 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28927774/chronic-intestinal-pseudo-obstruction-in-a-child-with-treacher-collins-syndrome
#20
E Giabicani, J Lemale, L Dainese, S Boudjemaa, A Coulomb, P Tounian, B Dubern
BACKGROUND: Treacher Collins syndrome (TCS) mainly presents with severe craniofacial developmental abnormalities characterized by a combination of bilateral downward-slanting palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. It is due to mutations in Treacher Collins syndrome 1 (TCOF1) (5q32-q33.1) and Polymerase RNA 1 polypeptides D and C (POLR1D [13q12...
September 15, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
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